ArticleEuropean journal of human genetics : EJHG2016
The use of whole-exome sequencing to disentangle complex phenotypes.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 16 citations in OpenAlex.
- Whole-exome sequencing of individuals from an isolated population under extreme conditions implicates rare risk variants of schizophrenia.Translational psychiatry · 2024Article
- Variant Enrichment Analysis to Explore Pathways Functionality in Complex Autoinflammatory Skin Disorders through Whole Exome Sequencing Analysis.International journal of molecular sciences · 2022Article
- Omics in a Digital World: The Role of Bioinformatics in Providing New Insights Into Human Aging.Frontiers in genetics · 2021Review
- Novel mutation in the periaxin gene causal to Charcot-Marie-Tooth disease type 4F.The Journal of international medical research · 2020Article
- Exome sequencing identifiesMolecular vision · 2020Article
- Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.Human molecular genetics · 2018Article
- Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Whole-exome sequencing of individuals from an isolated population implicates rare risk variants in bipolar disorder.Translational psychiatry · 2017Article
- Variable expressivity and genetic heterogeneity involving DPT and SEMA3D genes in autosomal dominant familial Meniere's disease.European journal of human genetics : EJHG · 2017Article
- A novel mutation in nuclear prelamin a recognition factor-like causes diffuse pulmonary arteriovenous malformations.Oncotarget · 2017Article
- Implementation of genomic medicine in Sri Lanka: Initial experience and challenges.Applied & translational genomics · 2016Article
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The success of whole-exome sequencing to identify mutations causing single-gene disorders has been well documented. In contrast whole-exome sequencing has so far had limited success in the identification of variants causing more complex phenotypes that seem unlikely to be due to the disruption of a single gene. We describe a family where two male offspring of healthy first cousin parents present a complex phenotype consisting of peripheral neuropathy and bronchiectasis that has not been described previously in the literature. Due to the fact that both children had the same problems in the context of parental consanguinity we hypothesised illness resulted from either X-linked or autosomal recessive inheritance. Through the use of whole-exome sequencing we were able to simplify this complex phenotype and identified a causative mutation (p.R1070*) in the gene periaxin (PRX), a gene previously shown to cause peripheral neuropathy (Dejerine-Sottas syndrome) when this mutation is present. For the bronchiectasis phenotype we were unable to identify a causal single mutation or compound heterozygote, reflecting the heterogeneous nature of this phenotype. In conclusion, in this study we show that whole-exome sequencing has the power to disentangle complex phenotypes through the identification of causative genetic mutations for distinct clinical disorders that were previously masked.
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